Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.961629809139604      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM081289)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:233655527A>GN/A show variant in all transcripts   IGV
HGNC symbol GIGYF2
Ensembl transcript ID ENST00000452341
Genbank transcript ID N/A
UniProt peptide Q6Y7W6
alteration type single base exchange
alteration region CDS
DNA changes c.325A>G
cDNA.406A>G
g.93519A>G
AA changes I109V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 109
frameshift no
known variant Reference ID: rs118203904
databasehomozygous (G/G)heterozygousallele carriers
1000G011
ExAC02222

known disease mutation at this position, please check HGMD for details (HGMD ID CM081289)

known disease mutation at this position, please check HGMD for details (HGMD ID CM081289)
known disease mutation at this position, please check HGMD for details (HGMD ID CM081289)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.2391
0.4921
(flanking)3.3351
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased93516wt: 0.7236 / mu: 0.7424 (marginal change - not scored)wt: GTGGGAGCATAGATG
mu: GTGGGAGCGTAGATG		 GGGA|gcat
Donor gained935130.66mu: GCAGTGGGAGCGTAG AGTG|ggag
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      109GYRRVRSGSGSIDDDRDSLPEWCL
mutated  all conserved    109GYRRVRSGSGSVDDDRDSLPEWC
Ptroglodytes  all identical  ENSPTRG00000028976  300GYRRVRSGSGSIDDDRDSLPEWC
Mmulatta  all identical  ENSMMUG00000012211  312GYRRVRSGSGSIDDDRDSLPEWC
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000048000  279GYRRVRSGSGSIDDDRDSLPEWC
Ggallus  no alignment  ENSGALG00000001482  n/a
Trubripes  all conserved  ENSTRUG00000008935  293GYRRPRSGSGSLEDERDSLPEWC
Drerio  not conserved  ENSDARG00000009735  285GYRRPRSGSGSAEEERDSLPEWC
Dmelanogaster  all identical  FBgn0039936  308GIGAAE-GVGSI
Celegans  no alignment  C18H9.3  n/a
Xtropicalis  no alignment  ENSXETG00000013890  n/a
protein features
start (aa)end (aa)featuredetails 
106111COMPBIASPoly-Gly.lost
118272COMPBIASArg-rich.might get lost (downstream of altered splice site)
158158MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
160160MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
189189MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
236236MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
242242MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
370370MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
373373MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
376376MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
382382MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
436473COMPBIASPro-rich.might get lost (downstream of altered splice site)
533581DOMAINGYF.might get lost (downstream of altered splice site)
547563REGIONRequired for GRB10-binding (By similarity).might get lost (downstream of altered splice site)
593593MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
6071025COMPBIASGln-rich.might get lost (downstream of altered splice site)
738888COMPBIASGlu-rich.might get lost (downstream of altered splice site)
792792CONFLICTE -> G (in Ref. 5; CAD98095).might get lost (downstream of altered splice site)
11531153CONFLICTD -> G (in Ref. 5; CAD98095).might get lost (downstream of altered splice site)
11981252COMPBIASGln-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2619 / 2619
position (AA) of stopcodon in wt / mu AA sequence 873 / 873
position of stopcodon in wt / mu cDNA 2700 / 2700
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 82 / 82
chromosome 2
strand 1
last intron/exon boundary 2708
theoretical NMD boundary in CDS 2576
length of CDS 2619
coding sequence (CDS) position 325
cDNA position
(for ins/del: last normal base / first normal base)		 406
gDNA position
(for ins/del: last normal base / first normal base)		 93519
chromosomal position
(for ins/del: last normal base / first normal base)		 233655527
original gDNA sequence snippet TTCGCTCTGGCAGTGGGAGCATAGATGATGACAGGGATAGC
altered gDNA sequence snippet TTCGCTCTGGCAGTGGGAGCGTAGATGATGACAGGGATAGC
original cDNA sequence snippet TTCGCTCTGGCAGTGGGAGCATAGATGATGACAGGGATAGC
altered cDNA sequence snippet TTCGCTCTGGCAGTGGGAGCGTAGATGATGACAGGGATAGC
wildtype AA sequence MTKLPDDPGR PNFEEGGPTS VGRKHEFIRS ESENWRIFRE EQNGEDEDGG WRLAGSRRDG
ERWRPHSPDG PRSAGWREHM ERRRRFEFDF RDRDDERGYR RVRSGSGSID DDRDSLPEWC
LEDAEEEMGT FDSSGAFLSL KKVQKEPIPE EQEMDFRPVD EGEECSDSEG SHNEEAKEPD
KTNKKEGEKT DRVGVEASEE TPQTSSSSAR PGTPSDHQSQ EASQFERKDE PKTEQTEKAE
EETRMENSLP AKVPSRGDEM VADVQQPLSQ IPSDTASPLL ILPPPVPNPS PTLRPVETPV
VGAPGMGSVS TEPDDEEGLK HLEQQAEKMV AYLQDSALDD ERLASKLQEH RAKGVSIPLM
HEAMQKWYYK DPQGEIQGPF NNQEMAEWFQ AGYFTMSLLV KRACDESFQP LGDIMKMWGR
VPFSPGPAPP PHMGELDQER LTRQQELTAL YQMQHLQYQQ FLIQQQYAQV LAQQQKAALS
SQQQQQLALL LQQFQTLKMR ISDQNIIPSV TRSVSVPDTG SIWELQPTAS QPTVWEGGSV
WDLPLDTTTP GPALEQLQQL EKAKAAKLEQ ERREAEMRAK REEEERKRQE ELRRQQEEIL
RRQQEEERKR REEEELARRK QEEALRRQRE QEIALRRQRE EEERQQQEEA LRRLEERRRE
EEERRKQEEL LRKQEEEAAK WAREEEEAQR RLEENRLRME EEAARLRHEE EERKRKELEV
QRQKELMRQR QQQQEALRRL QQQQQQQQLA QMKLPSSSTW GQQSNTTACQ SQATLSLAEI
QKLEEERERQ LREEESSASF CFYATAKAPA EGVDESSSAA AATATAETLR LGECQQTFRY
HEISSGDPAG RGQANAKAAA AAAATPATKQ SS*
mutated AA sequence MTKLPDDPGR PNFEEGGPTS VGRKHEFIRS ESENWRIFRE EQNGEDEDGG WRLAGSRRDG
ERWRPHSPDG PRSAGWREHM ERRRRFEFDF RDRDDERGYR RVRSGSGSVD DDRDSLPEWC
LEDAEEEMGT FDSSGAFLSL KKVQKEPIPE EQEMDFRPVD EGEECSDSEG SHNEEAKEPD
KTNKKEGEKT DRVGVEASEE TPQTSSSSAR PGTPSDHQSQ EASQFERKDE PKTEQTEKAE
EETRMENSLP AKVPSRGDEM VADVQQPLSQ IPSDTASPLL ILPPPVPNPS PTLRPVETPV
VGAPGMGSVS TEPDDEEGLK HLEQQAEKMV AYLQDSALDD ERLASKLQEH RAKGVSIPLM
HEAMQKWYYK DPQGEIQGPF NNQEMAEWFQ AGYFTMSLLV KRACDESFQP LGDIMKMWGR
VPFSPGPAPP PHMGELDQER LTRQQELTAL YQMQHLQYQQ FLIQQQYAQV LAQQQKAALS
SQQQQQLALL LQQFQTLKMR ISDQNIIPSV TRSVSVPDTG SIWELQPTAS QPTVWEGGSV
WDLPLDTTTP GPALEQLQQL EKAKAAKLEQ ERREAEMRAK REEEERKRQE ELRRQQEEIL
RRQQEEERKR REEEELARRK QEEALRRQRE QEIALRRQRE EEERQQQEEA LRRLEERRRE
EEERRKQEEL LRKQEEEAAK WAREEEEAQR RLEENRLRME EEAARLRHEE EERKRKELEV
QRQKELMRQR QQQQEALRRL QQQQQQQQLA QMKLPSSSTW GQQSNTTACQ SQATLSLAEI
QKLEEERERQ LREEESSASF CFYATAKAPA EGVDESSSAA AATATAETLR LGECQQTFRY
HEISSGDPAG RGQANAKAAA AAAATPATKQ SS*
speed 1.06 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project